title: The preserved speech variant of the Rett complex: a report of 8 cases.
abstract: In 7 Italian girls and one of Indian descent a syndrome is described with a neurodevelopmental profile and some symptoms similar to the classic Rett syndrome but with notable differences. The initial psychomotor development, usually reported as normal or close to normal, is followed by the first two stages of the disorder, identical to the classic Rett syndrome. Over a period varying between a few months or a few years a third stage begins when they slowly recover their ability to interact with people and in subsequent years begin to speak with words and fully formed sentences, echolalic and with pronoun reversal. Autistic features usually remain to a considerable extent. They slowly recover the ability to use their hands, although some degree of hand dyspraxia usually remains and their gait may become more appropriate. Hand-washing, hand-clapping, or hand-twisting are present. Bruxism, hyperventilation, microcephaly, epilepsy, kyphoscoliosis can only rarely be observed. Their height and weight are usually normal.
authors.affiliation: Department of Child Neuropsychiatry, General Hospital, Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Zappella
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications*; D001526:Behavioral Symptoms; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D015518:Rett Syndrome / Q000150:complications* / Q000175:diagnosis; D013064:Speech Disorders / Q000150:complications